E. D. Green and M. S. Guyer, National Human Genome Research Institute. Charting a course for genomic medicine from base pairs to bedside, Nature, vol.470, pp.204-217, 2011.

S. E. Soden, C. J. Saunders, L. K. Willig, E. G. Farrow, L. D. Smith et al., Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders, Sci Transl Med, vol.6, pp.265-168, 2014.

A. Bonnefond, E. Durand, O. Sand, F. De-graeve, S. Gallina et al., Molecular diagnosis of neonatal diabetes mellitus using next-generation sequencing of the whole exome, PLoS One, vol.5, p.13630, 2010.
URL : https://hal.archives-ouvertes.fr/hal-01655334

T. J. Dixon-salazar, J. L. Silhavy, N. Udpa, J. Schroth, S. Bielas et al., Exome sequencing can improve diagnosis and alter patient management, Sci Transl Med, vol.4, pp.138-78, 2012.

S. B. Ng, E. H. Turner, P. D. Robertson, S. D. Flygare, A. W. Bigham et al., Targeted capture and massively parallel sequencing of 12 human exomes, Nature, vol.461, pp.272-278, 2009.

A. Maddalena, S. Bale, S. Das, W. Grody, and S. Richards, ACMG Laboratory Quality Assurance Committee. Technical standards and guidelines: molecular genetic testing for ultra-rare disorders, Genet Med, vol.7, pp.571-83, 2005.

C. S. Richards, S. Bale, D. B. Bellissimo, S. Das, W. W. Grody et al., ACMG recommendations for standards for interpretation and reporting of sequence variations: revisions, Genet Med, vol.10, pp.294-300, 2007.

S. A. Miller, D. D. Dykes, and H. F. Polesky, A simple salting out procedure for extracting DNA from human nucleated cells, Nucleic Acids Res, vol.16, p.1215, 1988.

B. Li, V. G. Krishnan, M. E. Mort, F. Xin, K. K. Kamati et al., Automated inference of molecular mechanisms of disease from amino acid substitutions, Bioinforma Oxf Engl, vol.25, pp.2744-50, 2009.

A. Mckenna, M. Hanna, E. Banks, A. Sivachenko, K. Cibulskis et al., The genome analysis toolkit: a MapReduce framework for analyzing nextgeneration DNA sequencing data, Genome Res, vol.20, pp.1297-303, 2010.

H. Li and R. Durbin, Fast and accurate short read alignment with burrowswheeler transform, Bioinforma Oxf Engl, vol.25, pp.1754-60, 2009.

M. A. Depristo, E. Banks, R. Poplin, K. V. Garimella, J. R. Maguire et al., A framework for variation discovery and genotyping using next-generation DNA sequencing data, Nat Genet, vol.43, pp.491-499, 2011.

J. Desvignes, M. Bartoli, V. Delague, M. Krahn, M. Miltgen et al., VarAFT: a variant annotation and filtration system for human next generation sequencing data, Nucleic Acids Res, vol.46, issue.W1, pp.545-553, 2018.
URL : https://hal.archives-ouvertes.fr/hal-01852493

X. Zhu, S. Petrovski, P. Xie, E. K. Ruzzo, Y. Lu et al., Wholeexome sequencing in undiagnosed genetic diseases: interpreting 119 trios, Genet Med, vol.17, pp.774-81, 2015.

G. V. Kryukov, A. Shpunt, J. A. Stamatoyannopoulos, and S. R. Sunyaev, Power of deep, all-exon resequencing for discovery of human trait genes, Proc Natl Acad Sci, vol.106, pp.3871-3877, 2009.

T. Yavarna, N. Al-dewik, A. , M. , A. R. Al-mesaifri et al., High diagnostic yield of clinical exome sequencing in middle eastern patients with Mendelian disorders, Hum Genet, vol.134, pp.967-80, 2015.

C. Doss, D. R. Alasmar, R. I. Bux, P. Sneha, F. D. Bakhsh et al., Genetic epidemiology of Glucose-6-phosphate dehydrogenase deficiency in the Arab world, Sci Rep, vol.6, p.37284, 2016.

J. R. Thiagarajah, M. Donowitz, and A. S. Verkman, Secretory diarrhoea: mechanisms and emerging therapies, Nat Rev Gastroenterol Hepatol, vol.12, pp.446-57, 2015.

C. Ku, D. N. Cooper, C. Polychronakos, N. Naidoo, M. Wu et al., Exome sequencing: dual role as a discovery and diagnostic tool, Ann Neurol, vol.71, pp.5-14, 2012.

A. B. Singleton, Exome sequencing: a transformative technology, Lancet Neurol, vol.10, pp.942-948, 2011.